Basal cell carcinoma

Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.

Cancer

SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
SMO (somatic mutation) [HSA:6608] [KO:K06226]
p53 (mutation) [HSA:7157] [KO:K04451]
PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]

Arsenic in drinking-water
Solar radiation
*Benzo[a]pyrene [CPD:C07535]
*Chimney sweeping
*Mineral oils, untreated and mildly treated
*: Although this is a risk factor for skin cancer in general, the strength of association with different histological tumor types is not well understood.

Fluorouracil [DR:D00584]
Vismodegib [DR:D09992]
Sonidegib phosphate [DR:D10729]

ICD-O: 8090/3, Tumor type: Basal cell carcinoma

PMID:15978322 (gene, tumor type)

Daya-Grosjean L, Couve-Privat S.

Sonic hedgehog signaling in basal cell carcinomas.

Cancer Lett 225:181-92 (2005)
DOI:10.1016/j.canlet.2004.10.003

PMID:16541145

Khavari PA.

Modelling cancer in human skin tissue.

Nat Rev Cancer 6:270-80 (2006)
DOI:10.1038/nrc1838

PMID:15468170

Tsai KY, Tsao H.

The genetics of skin cancer.

Am J Med Genet C Semin Med Genet 131C:82-92 (2004)
DOI:10.1002/ajmg.c.30037

PMID:14643412 (carcinogen)

Rossman TG.

Mechanism of arsenic carcinogenesis: an integrated approach.

Mutat Res 533:37-65 (2003)
DOI:10.1016/j.mrfmmm.2003.07.009

PMID:17244035 (carcinogen)

Walvekar RR, Kane SV, Nadkarni MS, Bagwan IN, Chaukar DA, D'Cruz AK.

Chronic arsenic poisoning: a global health issue -- a report of multiple primary cancers.

J Cutan Pathol 34:203-6 (2007)
DOI:10.1111/j.1600-0560.2006.00596.x

PMID:15701081 (carcinogen)

Hussein MR.

Ultraviolet radiation and skin cancer: molecular mechanisms.

J Cutan Pathol 32:191-205 (2005)
DOI:10.1111/j.0303-6987.2005.00281.x

PMID:15660110 (carcinogen)

Luch A.

Nature and nurture - lessons from chemical carcinogenesis.

Nat Rev Cancer 5:113-25 (2005)
DOI:10.1038/nrc1546

PMID:17530489 (carcinogen)

Abnet CC.

Carcinogenic food contaminants.

Cancer Invest 25:189-96 (2007)
DOI:10.1080/07357900701208733

PMID:9498904 (carcinogen)

Boffetta P, Jourenkova N, Gustavsson P.

Cancer risk from occupational and environmental exposure to polycyclic aromatic hydrocarbons.

Cancer Causes Control 8:444-72 (1997)

PMID:9498901 (carcinogen)

Tolbert PE.

Oils and cancer.

Cancer Causes Control 8:386-405 (1997)

PMID:16307669 (marker)

Takeuchi Y, Tamura A, Kamiya M, Fukuda T, Ishikawa O.

Immunohistochemical analyses of p63 expression in cutaneous tumours.

Br J Dermatol 153:1230-2 (2005)
DOI:10.1111/j.1365-2133.2005.06952.x

PMID:15268709 (marker)

Park HR, Min SK, Cho HD, Kim KH, Shin HS, Park YE.

Expression profiles of p63, p53, survivin, and hTERT in skin tumors.

J Cutan Pathol 31:544-9 (2004)
DOI:10.1111/j.0303-6987.2004.00228.x